Fibromuscular dysplasia (FMD) is localized structural defects in the arterial wall, whose innate or acquired character is still unknown. This segmental non atheromatous injury, leads to stenosis of the arteries of small and medium caliber. Renal arteries are the most commonly affected with 60-75% of total fibrodysplasia. Three histological subtypes have been described: intimal, medial and peri-medial. They are not mutually exclusive and can be observed in the same patient. This is a rare blood disease, occurring in children and young adults. In this young population with long life expectancy, these aneurysmal lesion are associated with 10% risk of rupture. To date, no data have shown in the literature that FMD is link to genetic causes, or if there is specific histopathologic lesions for non-atherosclerotic renal artery aneurysms. To answer these questions, Cardiovascular Surgery Unit of the University Hospital of Saint-Etienne, French national reference center for renal artery surgery, in association with the Reference Center for Rare Vascular Disease in Paris, designed the first study for pathological and genetic characteristics of dysplastic renal artery aneurysms in young patients.
Study Type
OBSERVATIONAL
Enrollment
34
the samples are collected during surgery of renal artery aneurysms. Th tissue is cryopreserved in liquid nitrogen before analysis
CH Henri Mondor
Aurillac, France
CH Louis Pasteur
Bagnols-sur-Cèze, France
CHU Saint-Jacques
Besançon, France
Groupe Hospitalier Pellegrin
Bordeaux, France
Clinique Saint-Germain
Brive-la-Gaillarde, France
Centre Hospitalier A. Gayraud
Carcassonne, France
CH W. Morey
Chalon-sur-Saône, France
Hôpital Gabriel Montpied
Clermont-Ferrand, France
CH Emile Roux
Le Puy-en-Velay, France
Hôpital Jeanne de Flandre
Lille, France
...and 7 more locations
anatomopathological characteristics of renal aneurysms
Anatomopathological criteria is a composite outcome : Presence of a media thickness, the media disappearance zones, loss of smooth muscle cells (SMC) in the media with replacement by fibrosis, disorganization of SMC, aneurysms, dissections, discontinuity of the internal elastic lamina, and intimal thickening due to myointimal hyperplasia, abnormalities of proteins of the extracellular matrix.
Time frame: day 1
genetic markers in blood samples
identify specific genetic markers (mutation, variant) to characterize genes involved in fibromuscular dysplasia
Time frame: day 1
genetic markers in aneurysm tissue
identify specific genetic markers (mutation, variant) to characterize genes involved in fibromuscular dysplasia
Time frame: day 1
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